Genetic testing

What is  genetic testing?

Genetic testing can offer an explanation for why you have a certain illness. Scientists can look at your genes in detail to see if you have a genetic condition causing your high cholesterol, including familial hypercholesterolaemia (FH).

The results make it easier to:

  • make a diagnosis
  • find the right treatment
  • find others in your family with the same condition.

What does genetic testing involve?

To have a genetic test, you will need to give a sample of blood or tissue. The sample will be sent to a laboratory so that your genes can be looked at in detail to see if you have a faulty (altered) gene which can cause high cholesterol. 

Genetics testing can be organised by your specialist doctor at a lipid clinic. It’s not yet available everywhere in the UK, so your specialist will let you know if they think you should have it and if it’s available in your area.

Getting your results 

If you are the first person in your family to have a genetic test, it can take some time to get your results – around two or three months or sometimes longer. It’s a complicated test and the scientists need to search for all the possible genes that could be causing a problem, so it can take time to find the gene or parts of the gene involved.

Sometimes a faulty gene can’t be found. Genetic testing can find a faulty gene in about three out of every four people with FH.

If your test finds a faulty gene

If your test finds the gene which is causing your high cholesterol, your specialist will tell you more about:

  • what condition you have
  • how it affects your cholesterol levels
  • the best treatments for you
  • how they can keep an eye on your health.

Your specialist might also ask for your help in finding other close members of your family with the same condition – this is called cascade testing.

Finding a variant of unknown significance (VUS)

Sometimes a gene will be found that looks different to how it’s expected to, but it’s not clear whether it’s harmless or disease-causing. This is called a variant of unknown significance, or VUS.

Your specialist will talk to you about what this means for you. They might also want to test other members of your family to find out more.

If your test doesn’t find a faulty gene

If no faults or alterations can be found, it could mean that:

  • you don’t have a genetic condition
  • you do have a fault in a gene which is known to cause disease but it couldn’t be found – some genetic alterations are very difficult to find
  • you have a fault in a gene that causes disease, but it hasn’t been identified yet.

Your specialist will talk to you about what it means if no genetic cause for your high cholesterol can be found, and how you can bring it under control.

What happens to your sample?

Your specialist should tell you what will happen to your sample. It will be routinely stored in case it’s needed at a later date. Improvements in technology may mean that further tests can be done in the future.

Genetic counselling 

Before you have a genetic test, you should have genetic counselling. This could be with an FH professional such as your doctor or nurse, or it could be with a genetics counsellor at a specialist clinic. They can help you to understand:

  • what happens when you have a genetic test
  • what the results might mean for you and your family
  • how having FH or another condition may affect you
  • how having FH or another condition might affect any children you have, now or in the future.

You can speak to your health professional about any practical concerns you have too. For example, whether the results could affect life or travel insurance, job applications and mortgage applications, and what you can do about this.

Should you have a genetic test?

You don’t have to have a genetic test if you don’t want to, it’s a very personal choice.

Before you decide if it’s right for you, talk to your health professional or genetics counsellor about what’s involved and any worries you might have. They can help you weigh up the pros and cons and what the results could mean for you and your family. 

Waiting for and getting results can be a stressful time, and some people feel anxious or even guilty, but on the other hand you might feel relieved when you get your results. There are many good points about getting a test:

  • it can give or confirm a diagnosis
  • you can start treatment quickly
  • your health can be monitored
  • your future risk of illness could be lowered
  • if a gene is found, your family can get tested too.

What about your family – should they be tested?

If you have a genetic condition, testing family members helps to find other people with the same condition before it causes a problem.

If you have genetic testing and a faulty gene is found, your doctor will suggest that your family members have a test too, as it’s likely that some of them will have the same condition. Likewise, you may be contacted if someone in your family has been diagnosed with a genetic condition.

Most people with FH, for example, have two close relatives with FH – a brother, sister, parent or child.

It’s much easier to find a faulty gene in other family members once it's been found in one person. The geneticists already know what they’re looking for and don’t need to search all the genes that can cause disease. This is called cascade testing.

Why is it good for family members to be tested?

Sometimes people have a genetic condition such as FH and don't know it because they don’t have any related health problems such as heart disease, perhaps because they have a very healthy lifestyle. It’s even possible to have a genetic condition and not have high cholesterol. They could still pass the gene onto their children, who could go on to have high cholesterol and health problems.

Finding out if someone has a condition means their whole family, including children, can get treatment if they need it.

Telling your family you have a genetic condition 

If you have FH or another condition, it’s likely that your doctor will want your help to contact your family. They might give you a letter to pass on which explains about the condition, the health problems it can cause, and how the genetic test works. Passing on this letter can help prevent heart disease and stroke in your family for generations to come.

Some people find it hard to explain to their family what their condition is and why it’s important to get a test. You might not be in touch with some family members or might not be on good terms, which can make contacting them or talking to them difficult.

If you would like any support in contacting or talking to your family, our specialist nurses or your genetics counsellor may be able to help.

 FH and  Insurance

The Association of British Insurers (ABI) have the 'Code on Genetic Testing and Insurance'. This is an agreement between the Government and the ABI. It explains what an insurance company does and does not need to know about any genetic testing you may have had when you apply for insurance.

All members of the ABI automatically sign-up to the Code, and other insurance companies who are not members of the ABI can also sign-up.

At HEART UK, our understanding of the code is that when you are getting insurance you do need to declare that you have FH, but this is not a cause to increase your insurance premium.

When looking for insurance, we suggest that you declare that you have FH then challenge the company if they load your premium. We also suggest that you shop around.

The guidelines from the ABI are currently being reviewed. We believe that the current definitions of a ‘diagnostic genetic test’ and ‘predictive genetic test’ is confusing for people with FH, so we are in discussion with them about adding greater clarity.

FH is a ‘diagnosis’ under the International Classification of Diseases 11th edition issued by the World Health Organisation. This is why we suggest that you do declare FH when seeking insurance, to avoid any challenge.

However, a genetic test for FH is also a ‘predictive genetic test’ which means it predicts a future risk of disease in people without symptoms of a genetic disorder. Insurers are required to ignore the results of predictive genetic tests.

So, we suggest that you tell your insurer, but if you don’t have symptoms and have normal lipid levels, that you challenge any company that is loading your premium based simply on having FH.

We believe that people who are diagnosed with FH and, where necessary, have treatment from a young age will have lower lipid levels and a better lifestyle than the average person in the population, and there is evidence to support this on a population basis. Arguably this group are at lower risk and could be offered a lower premium.

Find out more

We currently recommend that you also contact an insurance broker. They are professional insurance experts who can help find different types of insurance and suitable policies for people who may have had issues finding insurance: British Insurance Brokers Association.

Where is genetic testing available in the UK?

Genetic testing for FH is fully available across the whole of the UK. However, there may be a delay in clinic appointments and referrals due to the COVID-19 pandemic. Clinics may contact their patients for either face to face, virtual or clinic appointments.

 FH and the Armed Forces

There has been a change in policy for people with FH who wish to join the armed forces. Now, those with FH who have previously had high cholesterol levels and are being treated with cholesterol-lowering medication such as a statin will be referred for an assessment/review by either a cardiologist or lipid specialist. Those who are taking a statin should have a stable medication history for six months, along with a normal exercise tolerance whilst exercising which is compatible with military training requirements for three months. Those who are accepted for entry will have an annual medical review. This information applies to all the Armed Forces but it may not guarantee acceptance as certain roles require people to be 'medically fully deployable'.  

Those who have poorly-controlled cholesterol levels will be considered unfit for entry into the Armed Forces due to their increased risk of cardiovascular diseases such as heart attacks and strokes.